Variant report

Variant	rs2081687
Chromosome Location	chr8:59388565-59388566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10107182	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1030431	0.88[CEU][hapmap]
rs10504255	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10957054	0.85[EUR][1000 genomes]
rs11783515	0.86[JPT][hapmap]
rs11996829	0.88[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs13253288	0.84[EUR][1000 genomes]
rs13263105	0.88[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs13277801	0.91[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes]
rs1529367	0.85[EUR][1000 genomes]
rs1529368	0.85[EUR][1000 genomes]
rs1580180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1993453	0.88[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes]
rs2016886	0.88[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs2326077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4738679	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4738680	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4738684	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471717	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6982486	0.88[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs6985620	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7005978	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007181	0.91[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs7018333	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7826120	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8192870	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs9297994	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs983812	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

Variant related diseases (count:4)

Disease	PMID	Source
LDL cholesterol	20686565	GWAS catalog
LDL cholesterol	24097068	GWAS catalog
Cholesterol, total	20686565	GWAS catalog
Cholesterol, total	24097068	GWAS catalog

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59385600-59389200	Weak transcription	HepG2	liver
2	chr8:59386600-59389200	Weak transcription	Liver	Liver

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